Browsing by Author "Arenillas Rocha, Leonor"

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  • Causes and pathophysiology of acquired sideroblastic anemia
    Rodríguez-Sevilla, Juan José; Calvo, Xavier Arenillas Rocha, Leonor; Arenillas Rocha, Leonor (MDPI, 2022)
    The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia and the presence of ring sideroblasts in the bone marrow. Ring sideroblasts are abnormal erythroblasts with ...
  • Correlation of myelodysplastic syndromes with i(17)(q10) and TP53 and SETBP1 mutations.
    Ademá, Vera; Solé Ristol, Francesc; Arenillas Rocha, Leonor (Wiley, 2015)
    Letter to the Editor
  • Different methylation signatures at diagnosis in patients with high-risk myelodysplastic syndromes and secondary acute myeloid leukemia predict azacitidine response and longer survival
    Cabezón, Marta; Arenillas Rocha, Leonor; Zamora, Lurdes; CETLAM Group (BioMed Central, 2021)
    Background: Epigenetic therapy, using hypomethylating agents (HMA), is known to be effective in the treatment of high-risk myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) patients who are not suitable for ...
  • Dissecting the sCD3-CD4+ T-cell population: A valuable screening tool for angioimmunoblastic T-cell lymphoma
    Rodríguez-Sevilla, Juan José; Ferrer, Ana; Colomo Saperas, Luis Alberto; Sánchez, Blanca; Arenillas Rocha, Leonor; Calvo, Xavier (Wiley, 2022)
  • Identification of two novel EPOR gene variants in primary familial polycythemia: Case report and literature review
    Lo Riso, Laura; Vargas-Parra, Gardenia; Navarro, Gemma; Arenillas Rocha, Leonor; Fernández-Ibarrondo, Lierni; Robredo, Beatriz; Ballester, Carmen; López, Bernardo; Perez-Montaña, Albert; Sampol, Antonia; Florensa Brichs, Lourdes; Besses Raebel, Carles; Duran, María Antonia; Bellosillo Paricio, Beatriz (MDPI, 2022)
    Primary familial and congenital polycythemia is a rare disease characterized by an increase in red cell mass that may be due to pathogenic variants in the EPO receptor (EPOR) gene. To date, 33 genetic variants have been ...
  • Molecular and cytogenetic characterization of myelodysplastic syndromes in cell-free DNA
    García Gisbert, Nieves, 1994-; Garcia-Ávila, Sara; Merchán, Brayan; Salido Galeote, Marta; Fernández Rodríguez, M. Concepción; Gibert Fernandez, Joan 1988-; Fernández-Ibarrondo, Lierni; Camacho Díaz, Laura; Lafuente, Marta; Longarón Rozalen, Raquel; Espinet Solà, Blanca; Vélez, Patricia; Pujol Vallverdú, Ramon Maria; Andrade-Campos, Marcio; Arenillas Rocha, Leonor; Salar Silvestre, Antonio; Calvo Gonzalo, Xavier; Besses Raebel, Carles; Bellosillo Paricio, Beatriz (American Society of Hematology, 2022)
    Molecular and cytogenetic studies are essential for diagnosis and prognosis in patients with myelodysplastic syndromes (MDSs). Cell-free DNA (cfDNA) analysis has been reported to be a reliable noninvasive approach for ...
  • Multidimensional assessment of patient condition and mutational analysis in peripheral blood, as tools to improve outcome prediction in myelodysplastic syndromes: A prospective study of the Spanish MDS group
    Ramos, Fernando; Robledo, Cristina; Pereira, Arturo; Pedro Olive, Carme; Benito, Rocío; De Paz, Raquel; Rey, Mónica del; Insunza, Andrés; Tormo, Mar; Díez-Campelo, María; Xicoy, Blanca; Salido, Eduardo; Sánchez-del-Real, Javier; Arenillas Rocha, Leonor; Florensa Brichs, Lourdes; Luño, Elisa; Cañizo, Consuelo del; Sanz, Guillermo F.; Hernández-Rivas, Jesús María; Spanish Group for Myelodysplastic Syndromes (GESMD) (Wiley, 2017)
    The International Prognostic Scoring System and its revised form (IPSS-R) are the most widely used indices for prognostic assessment of patients with myelodysplastic syndromes (MDS), but can only partially account for the ...
  • Non-del(5q) myelodysplastic syndromes-associated loci detected by SNP-array genome-wide association meta-analysis
    McGraw, Kathy L.; Arenillas Rocha, Leonor; List, Alan F. (The American Society of Hematology, 2019)
    Myelodysplastic syndromes (MDS) are hematopoietic stem cell malignancies. Known predisposing factors to adult MDS include rare germline mutations, cytotoxic therapy, age-related clonal hematopoiesis, and autoimmune or ...
  • Oligomonocytic and overt chronic myelomonocytic leukemia show similar clinical, genomic, and immunophenotypic features
    Calvo Gonzalo, Xavier; García-Gisbert, Nieves; Parraga, Ivonne; Gibert, Joan; Florensa Brichs, Lourdes; Andrade-Campos, Marcio; Merchan, Brayan; García-Avila, Sara; Montesdeoca, Sara; Fernández-Rodríguez, C.; Salido Galeote, Marta; Puiggros Metje, Anna Maria; Espinet Solà, Blanca; Colomo Saperas, Luis Alberto; Roman-Bravo, David; Bellosillo Paricio, Beatriz; Ferrer Del Alamo, Ana; Arenillas Rocha, Leonor (American Society of Hematology, 2020)
    Oligomonocytic chronic myelomonocytic leukemia (OM-CMML) is defined as those myelodysplastic syndromes (MDSs) or myelodysplastic/myeloproliferative neoplasms, unclassifiable with relative monocytosis (≥10% monocytes) and ...
  • Optical genome mapping: a promising new tool to assess genomic complexity in chronic lymphocytic leukemia (CLL)
    Puiggros Metje, Anna Maria; Ramos Campoy, Silvia; Kamaso Navarro, Joanna; de la Rosa, Mireia; Salido Galeote, Marta; Melero Vilella, Maria Carme; Rodríguez-Rivera, María; Gimeno Vázquez, Eva; Calvo, Xavier; Arenillas Rocha, Leonor; Ferrer Del Alamo, Ana; Espinet Solà, Blanca (MDPI, 2022)
    Novel treatments in chronic lymphocytic leukemia (CLL) have generated interest regarding the clinical impact of genomic complexity, currently assessed by chromosome banding analysis (CBA) and chromosomal microarray analysis ...
  • Outcomes and molecular profile of oligomonocytic CMML support its consideration as the first stage in the CMML continuum
    Calvo González, Xavier; Roman-Bravo, David; García Gisbert, Nieves, 1994-; Rodriguez-Sevilla, Juan José; García-Avila, Sara; Florensa Brichs, Lourdes; Gibert Fernandez, Joan 1988-; Fernández Rodríguez, M. Concepción; Salido Galeote, Marta; Puiggros Metje, Anna Maria; Espinet Solà, Blanca; Colomo Saperas, Luis Alberto; Bellosillo Paricio, Beatriz; Ferrer, Ana; Arenillas Rocha, Leonor (American Society of Hematology, 2022)
    atients with oligomonocytic chronic myelomonocytic leukemia (OM-CMML) are currently classified according to the 2017 World Health Organization myelodysplastic syndromes classification. However, recent data support considering ...
  • Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q
    Ademá, Veraor; Palomo, Laura; Walter, Wencke; Mallo, Mar; Hutter, Stephan; La Framboise, Thomas; Arenillas Rocha, Leonor; Meggendorfer, Manja; Radivoyevitch, Tomas; Xicoy, Blanca; Pellagatti, Andrea; Haferlach, Claudia; Boultwood, Jacqueline; Kern, Wolfgang; Visconte, Valeria; Sekeres, Mikkael; Barnard, John; Haferlach, Torsten; Solé Ristol, Francesc; Maciejewski, Jaroslaw P. (Elsevier, 2022)
    Background: haploinsufficiency (HI) resulting from deletion of the long arm of chromosome 5 [del(5q)] and the accompanied loss of heterozygosity are likely key pathogenic factors in del(5q) myeloid neoplasia (MN) although ...
  • Pharmacological modulation of CXCR4 cooperates with BET bromodomain inhibition in diffuse large B-cell lymphoma
    Recasens-Zorzo, Clara; Arenillas Rocha, Leonor; Calvo Gonzalo, Xavier; Colomo Saperas, Luis Alberto; Roué, Gaël (Ferrata Storti Foundation, 2019)
    Constitutive activation of the chemokine receptor CXCR4 has been associated with tumor progression, invasion, and chemotherapy resistance in different cancer subtypes. Although the CXCR4 pathway has recently been suggested ...
  • Prognostic impact of circulating plasma cells in patients with multiple myeloma: implications for plasma cell leukemia definition
    Granell, Miquel; Calvo Gonzalo, Xavier; Garcia-Guiñón, Antoni; Escoda, Lourdes; Abella Monreal, Eugenia; Martínez, Clara M.; Teixidó, Montserrat; Gimenez, Mª Teresa; Senín Magan, Maria Alicia; Sanz, Patricia; Campoy, Desirée; Vicent, Ana; Arenillas Rocha, Leonor; Rosiñol, Laura; Sierra, Jorge; Blade, Joan; Fernández de Larrea, Carlos; GEMMAC (Grup per l’estudi del mieloma i l’amiloïdosi de Catalunya) (Ferrata Storti Foundation, 2017)
    The presence of circulating plasma cells in patients with multiple myeloma is considered a marker for highly proliferative disease. In the study herein, the impact of circulating plasma cells assessed by cytology on survival ...
  • The importance of adequate recognition of normal and dysplastic myelopoiesis for the diagnosis of myelodysplastic syndromes
    Florensa Brichs, Lourdes; Arenillas Rocha, Leonor; Calvo Gonzalo, Xavier; Pérez-Vila, Encarnación; Ferrer Del Alamo, Ana; Woessner, Soledad (Universidad de Murcia, 2019)
    The diagnosis of myelodysplastic syndromes is based on the presence of cytopenias, dysplastic morphological features on peripheral blood (PB) and bone marrow (BM), cytogenetic abnormalities and requires to rule out other ...
  • The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
    Riley, Lisa G.; Arenillas Rocha, Leonor; Fleming, Mark D. (Ferrata Storti Foundation, 2018)
    YARS2 variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for conjugating ...
  • Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not?
    Saumell, Silvia; Solé Ristol, Francesc; Arenillas Rocha, Leonor; Montoro, Julia; Valcárcel, David; Pedro Olive, Carme; Sanzo, Carmen; Luño, Elisa; Giménez, Teresa; Arnan, Montserrat; Pomares, Helena; De Paz, Raquel; Arrizabalaga, Beatriz; Jerez, Andrés; Martínez, Ana B.; Sánchez-Castro, Judith; Rodríguez-Gambarte, Juan D.; Raya, José M.; Ríos, Eduardo; Rodríguez-Rivera, María; Espinet Solà, Blanca; Florensa Brichs, Lourdes (Public Library of Science, 2015)
    Isolated trisomy 8 is not considered presumptive evidence of myelodysplastic syndrome (MDS) in cases without minimal morphological criteria. One reason given is that trisomy 8 (+8) can be found as a constitutional mosaicism ...